Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Matheus V M B WilkeEric W KleeRadhika DhamijaFernando C FervenzaBrittany ThomasNelson LeungMarie C HoganMegan M HagerKayla J KolbertJennifer L KemppainenElle C LoftusKatie M LeitzenCarolyn R VitekTammy McAllisterKonstantinos N LazaridisFilippo Pinto E VairoPublished in: Orphanet journal of rare diseases (2024)
ES and GS show diagnostic yields comparable to EGBP for single-system diseases. However, EGBP's limitations in detecting new disease-associated genes underscore the necessity for periodic updates.